Dyskeratosis congenita in an adolescent girl with associated choanal atresia.

MedLine Citation:

PMID:
15660894
Owner:
NLM
Status:
MEDLINE

Abstract/OtherAbstract:

Dyskeratosis congenita is a rare, progressive, degenerative disorder characterized by cutaneous and mucosal involvement in the first decade of life with malignant changes and bone marrow failure in the second and third decades. The primary inheritance pattern is X-linked recessive, with the majority of cases presenting in boys. We report dyskeratosis congenita in an adolescent girl with choanal atresia, a previously unreported association.